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The international Huntington’s Disease Regulatory Science Consortium (HD-RSC) developed a biological definition of Huntington’s disease (HD) and a staging system that, for the first time, covers the entire disease course. The development and validation processes of the new framework, called the Huntington’s Disease Integrated Staging System (HD-ISS), were…

Levels of neurofilament light chain, a marker of nerve cell degeneration, are increased in children with juvenile-onset Huntington’s disease (JOHD), according to a new study. Results also suggest that levels of this protein, known as NfL, are correlated in these young patients both with disease severity and damage to…

Note: This story was updated July 13, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world.

Most young people at risk of developing Huntington’s disease are not given information about the disorder at the time they’re told about the risk and end up seeking it on their own online, according to a new study. “This study is the first to take an in-depth look at…

AMT-130, uniQure’s investigational gene therapy for Huntington’s disease, was generally well-tolerated and led to reductions in the levels of mutant huntingtin protein a year after treatment, according to an update from an ongoing Phase 1/2 trial. Moreover, levels of neurofilament light (NfL), a biomarker of nerve damage —…

Scientists have created a map of the cells contained in human brain blood vessels. Using the map as a reference, they have discovered certain gene changes occurring in specific brain cells in Huntington’s disease. The study, “Single-cell dissection of the human brain vasculature,” was published in Nature.

Bit.Bio has launched a new human cell model to advance research and accelerate therapeutic development for Huntington’s disease. The cells, called ioGlutamatergic Neurons HTT-50CAG/T, are engineered to carry a specific mutation in the HTT gene that causes Huntington’s. By carrying the same genetic…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…

Activating the JAK2-STAT3 pathway in astrocyte cells reduced multiple hallmark features of Huntington’s disease  — including the toxic clumping of the huntingtin protein in nerve cells — from the brains of a mouse model, a study reported. “Our results open new therapeutic avenues to further enhance the natural partnership…

The U.S. Food and Drug Administration (FDA) has designated valbenazine an orphan drug as a potential treatment to control the involuntary, jerky movements known as chorea in people with Huntington’s disease. Orphan drug status is given to therapies with the potential to improve medical care for rare disease. It…